Canonical Allele Identifier: CA400961428
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919617G>T , CM000679.2:g.74919617G>T GRCh38
NC_000017.10:g.72915712G>T , CM000679.1:g.72915712G>T GRCh37
NC_000017.9:g.70427307G>T NCBI36
NG_007882.1:g.8640C>A
NG_033062.1:g.343G>T
NG_007882.2:g.8647C>A
NG_033062.2:g.343G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1219C>A MANE Select ENSP00000480279.1:p.Leu407Ile
ENST00000579243.1:c.*818C>A ENSP00000462568.1:n.*818C>A
ENST00000614341.4:c.1219C>A ENSP00000480279.1:p.Leu407Ile
NM_001282489.2:c.910C>A NP_001269418.1:p.Leu304Ile
NM_173477.4:c.1219C>A NP_775748.2:p.Leu407Ile
XM_011524296.1:c.910C>A XP_011522598.1:p.Leu304Ile
XM_011524296.2:c.910C>A XP_011522598.1:p.Leu304Ile
NM_173477.5:c.1219C>A MANE Select NP_775748.2:p.Leu407Ile
NM_001282489.3:c.910C>A NP_001269418.1:p.Leu304Ile